Phenotypes for disease #04300 (FANC (Fanconi anemia (FANC)))

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0000034682 - - growth retardation, microcephaly; patient's cells sensitive to DNA interstrand cross linkers (submitted 2013-07-11 17:27:11) Familial, autosomal recessive - - - - - Najim Ameziane 00001617
0000034683 Fanconi anemia - see paper; ... Isolated (sporadic) - - - - - Najim Ameziane 00016307
0000046795 - - Hyperpigmentation, supernumerary thumb with hypoplastic thennar eminence, strabismus eyes Familial, autosomal recessive - 7 - - - Avani P. Solanki 00060298
0000050409 - - 0d-left facial nerve palsy, microcephaly, bilaterally absent thumbs, ectopic left kidney, haemodynamically stable patent ductus arteriosus, normal blood indices/karyotype, complete absence first metacarpal and scaphoid bones bilaterally, absent left radius, hypoplastic right radius; followup severe growth deficiency, microcephaly, marked increase dsDNA breaks diepoxybutane test Familial, autosomal recessive 2y6m - - - - Johan den Dunnen 00063826
0000060990 Fanconi anemia FANCV severe bone marrow failure (HP:0005528) involving all 3 lineages (hemoglobin, 8.0 g/dl; neutrophil count, 0.43×10ˆ9/l; platelets, 10 × 10^9/l), Fanconi anemia physical signs (short size (HP:0004322) at less than tenth percentile, microcephaly (HP:0000252), abnormal facial features (HP:0000271)), renal tubulopathy (HP:0000091), elevated serum alpha-fetoprotein (HP:0006254), positive mitomycine C (MMC) chromosome breakage test blood lymphocytes Familial, autosomal recessive 08y - - - - Johan den Dunnen 00081424
0000060991 - - see 2nd paper; no bone marrow failure (normal haematological counts haemoglobin, thrombocytes, leukocytes, neutrophils), ... Familial, autosomal recessive 07y - - - - Johan den Dunnen 00063826
0000080288 - - Short stature Poor weight gain Increased chromosomal breaks Familial, autosomal recessive 03y 03y06m 00y03m Failure to thrive - Asaf Ta-Shma 00102112
0000084342 - - fanconi anemia (FA) Isolated (sporadic) 2y6m - - - - Johan den Dunnen 00106537
0000094165 Fanconi anemia Fanconi anemia, type W (FANCW) see paper; ... Familial, autosomal recessive - - - - - Johan den Dunnen 00119161
0000199412 Fanconi anemia FANCA - Familial, autosomal recessive - - - - - Johan den Dunnen 00020027
0000291079 Fanconi anemia 101 anemia, + diepoxybutane test, hypospadias, cryptorchidism, deviation to right at IVS and slight enlargement of left ventricle Familial, autosomal recessive 9y - - - - Johan den Dunnen 00397951
0000291080 Fanconi anemia 102 anemia, + diepoxybutane test, Cafe au lait and hyperpigmentation Familial, autosomal recessive 6y - - - - Johan den Dunnen 00397952
0000291081 Fanconi anemia 103 anemia, + diepoxybutane test, microphthalmia, hyperpigmentation, left kidney agenesis, hypothyroidism, bilateral hearing loss Familial, autosomal recessive 12y - - - - Johan den Dunnen 00397953
0000291082 Fanconi anemia 104 anemia, + diepoxybutane test, Cafe au lait, left kidney agenesis and osteopenia Familial, autosomal recessive 14y - - - - Johan den Dunnen 00397954
0000291083 Fanconi anemia 105 anemia, + diepoxybutane test, microcephaly, microphthalmia, ptosis, cafe au lait and hyperpigmentation Familial, autosomal recessive 14y - - - - Johan den Dunnen 00397955
0000291084 Fanconi anemia 106 anemia, - diepoxybutane test, extremity anomalies, right ectopic kidney, right hydroureteronephrosis, right extra renal pelvis and patent ductus arteriosus Familial, autosomal recessive 9y - - - - Johan den Dunnen 00397956
0000291085 Fanconi anemia 107 anemia, - diepoxybutane test, microcephaly, microphthalmia, cafe au lait, hyperpigmentation, left ectopic kidney and growth retardation Familial, autosomal recessive 5y - - - - Johan den Dunnen 00397957
0000291086 Fanconi anemia 108 anemia, + diepoxybutane test, extremity anomalies, unilateral kidney agenesis, atrial septal defect, ventricular septal defect, hypothyroidism and cryptorchidism Familial, autosomal recessive 5y - - - - Johan den Dunnen 00397958
0000291087 Fanconi anemia 109 anemia, + diepoxybutane test, microcephaly, hyperpigmentation, left kidney agenesis, growth retardation and hyperglycemia Familial, autosomal recessive 13y - - - - Johan den Dunnen 00397959
0000291088 Fanconi anemia 110 anemia, + diepoxybutane test, hydrocephaly, microphthalmia, ptosis, hyper/hypopigmentation, cafe au lait, cortical cyst and osteoporosis Familial, autosomal recessive 6y - - - - Johan den Dunnen 00397960
0000291089 Fanconi anemia 111 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397961
0000291090 Fanconi anemia 112 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397962
0000291091 Fanconi anemia 113 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397963
0000291092 Fanconi anemia 114 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397964
0000291093 Fanconi anemia 115 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397965
0000291094 Fanconi anemia 116 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397966
0000291095 Fanconi anemia 117 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397967
0000291096 Fanconi anemia 118 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397968
0000291097 Fanconi anemia 119 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397969
0000291098 Fanconi anemia 120 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397970
0000291099 Fanconi anemia 121 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397971
0000291100 Fanconi anemia 122 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397972
0000291101 Fanconi anemia 123 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397973
0000291102 Fanconi anemia 124 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397974
0000291103 Fanconi anemia 125 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397975
0000291104 Fanconi anemia 126 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397976
0000291105 Fanconi anemia 127 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397977
0000291106 Fanconi anemia 128 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397978
0000291107 Fanconi anemia 129 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397979
0000291108 Fanconi anemia 130 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397980
0000291109 Fanconi anemia 131 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397981
0000291110 Fanconi anemia 132 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397982
0000291111 Fanconi anemia 133 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397983
0000291112 Fanconi anemia 134 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397984
0000291113 Fanconi anemia 135 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397985
0000291114 Fanconi anemia 136 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397986
0000291115 Fanconi anemia 137 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397987
0000291116 Fanconi anemia 138 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397988
0000291117 Fanconi anemia 139 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397989
0000291118 Fanconi anemia 140 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397990
0000291119 Fanconi anemia 141 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397991
0000291120 Fanconi anemia 142 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397992
0000291121 Fanconi anemia 143 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397993
0000291122 Fanconi anemia 144 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397994
0000291123 Fanconi anemia 145 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397995
0000291124 Fanconi anemia 146 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397996
0000291125 Fanconi anemia 147 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397997
0000291126 Fanconi anemia 148 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397998
0000291127 Fanconi anemia 149 - Familial, autosomal recessive - - - - - Johan den Dunnen 00397999
0000291128 Fanconi anemia 150 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398000
0000291129 Fanconi anemia 151 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398001
0000291130 Fanconi anemia 152 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398002
0000291131 Fanconi anemia 153 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398003
0000291132 Fanconi anemia 154 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398004
0000291133 Fanconi anemia 155 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398005
0000291134 Fanconi anemia 156 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398006
0000291135 Fanconi anemia 157 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398007
0000291136 Fanconi anemia 158 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398008
0000291137 Fanconi anemia 159 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398009
0000291138 Fanconi anemia 160 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398010
0000291139 Fanconi anemia 161 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398011
0000291140 Fanconi anemia 162 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398012
0000291141 Fanconi anemia 163 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398013
0000291142 Fanconi anemia 164 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398014
0000291143 Fanconi anemia 165 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398015
0000291144 Fanconi anemia 166 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398016
0000291145 Fanconi anemia 167 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398017
0000291146 Fanconi anemia 168 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398018
0000291147 Fanconi anemia 169 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398019
0000291148 Fanconi anemia 170 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398020
0000291149 Fanconi anemia 171 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398021
0000291150 Fanconi anemia 172 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398022
0000291151 Fanconi anemia 173 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398023
0000291152 Fanconi anemia 174 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398024
0000291153 Fanconi anemia 175 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398025
0000291154 Fanconi anemia 176 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398026
0000291155 Fanconi anemia 177 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398027
0000291156 Fanconi anemia 178 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398028
0000291157 Fanconi anemia 179 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398029
0000291158 Fanconi anemia 180 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398030
0000291159 Fanconi anemia 181 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398031
0000291160 Fanconi anemia 182 - Familial, autosomal recessive - - - - - Johan den Dunnen 00398032
0000337218 ovarian carcinoma FANCS see paper; ..., 28y-stage IV papillary serous ovarian carcinoma; short stature (−2.1 SD adult); developmental delay; microcephaly; macrognathia; normal eyes; normal ears; low anterior hairline, prominent nasal bridge, small alae nasi; skin normal pigmentation; intellectual disability; no bone marrow failure; hyper-sensitivity to carboplatin and paclitaxel (severe neutropenia, anaemia, and thrombopenia); family breast, ovarian, peritoneal and intestinal cancer in 1st-4th degree relatives Familial, autosomal dominant 29y - - - - Johan den Dunnen 00448029
0000337231 Fanconi anemia FANCS see paper; ..., 25y-deceased; short stature (-4.35 SD adult); microsomia; microcephaly; narrow palate, malocclusion; upslanting palpebral fissures, blepharoph-imosis, epicanthus, strabismus, hypertelorism, microphthalmia; conductive hearing loss; sparse hair, broad nasal bridge/tip; skin hyperpigmented, hypopigmented; mild intellectual disability; no bone marrow failure; proximally inserted thumbs, 2nd digit camptodactyly, 2–3 toe syndactyly, duodenal stenosis, hip dislocation, enlarged left kidney; 23y-ductal breast carcinoma; tolerated chemotherapy normally (docetaxel, fluorouracil-epirubicin-cyclophosph-amide); family 6 cancer cases (3F, 3M) Familial, autosomal recessive 25y - - - - Johan den Dunnen 00448042
0000337232 Fanconi anemia FANCS see paper; ..., 2y6m-short stature (-6.1 SD); microcephaly; micrognathia; upslanting palpebral fissures, long eye lashes; abnormal ear; bitemporal narrowing; skin hyperpigmented, not hypopigmented; intellectual disability; no bone marrow failure; clinodactyly, atrial septal defect; 6y-diffuse astrocytoma; 3y9m-died following decompressive neurosurgery; breast cancer in 1st, 2nd and 4th degree relatives Familial, autosomal recessive 02y06m - - - - Johan den Dunnen 00448043
0000337238 Fanconi anemia FANCS see paper; ..., childhood hearing loss (right side), celiac disease, congenital left hip dislocation, short height (150 cm, <5%ile), microcephaly (OFC 52cm, <5%ile), triangular face, low placed ears, skin hyperpigmentation, café au lait macules; 30y-invasive‐ductal carcinoma left breast; family with additional cancer cases Familial, autosomal dominant 30y - - - - Johan den Dunnen 00448049
0000337239 Fanconi anemia FANCS see paper; ..., small for gestational age, 2y-short stature (-5.3 SD); microcephaly; micrognathia; upslanting palpebral fissures, epicanthus, strabismus; cupped ears; bitemporal narrowing; skin hyperpigmented, hypopigmented; mild intellectual disability; no bone marrow failure; clinodactyly, wide intermammillary distance, patent ductus arteriosus, micropenis, bilateral cryptorchidism; family breast cancer in 3rd degree relatives Familial, autosomal dominant 02y - - - - Johan den Dunnen 00448050
0000337240 Fanconi anemia FANCS see paper; ..., 13m-deceased; small for gestational age, weight -0.3 SD (<3%ile,) OFC -4.2 SD (<3%ile); laryngotracheomalacia, hypoglycemia, respiratory distress, congenital cataract left eye; microcephaly; micrognathia, laryngotracheo-malacia; low set retrorotated ears; parse hair, bitemporal narrowing, broad nasal bridge/tip, thickened alae nasi, anteverted nares, deep philtrum; skin hyperpigmented, not hypopigmented; no bone marrow failure; wide intermammillary distance, bilateral transverse palmar crease, fifth finger brachydactyly, bilateral 2-3 toe syndactyly, hypoglycaemia; 13m-malignant central nervous system tumour, WHO grade 4 Familial, autosomal dominant 00y13m - - - - Johan den Dunnen 00448051
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