Phenotypes for disease #02484

30 entries on 1 page. Showing entries 1 - 30.
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0000044568 autosomal recessive poikiloderma (early onset) with ichthyosis, palmoplantar keratoderma, pachyonychia, mild photosensitivity, chronic neutropenia, recalcitrant pulmonary disease, evidence reduced reactive oxygen species production in neutrophils - - Familial, autosomal recessive - 36y 0d - - Ludovica Volpi 00057918
0000044569 osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation - - Isolated (sporadic) - 21y 6m - - Ludovica Volpi 00057919
0000044570 Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism. - - Familial, autosomal recessive - 22y 00y06m - - Ludovica Volpi 00057920
0000044571 poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia - - Familial - 21y 6m - - Ludovica Volpi 00057921
0000044572 Midface Hypoplasia, Hypoplasia of lateral eyebrows, hypertelorism, hypermobile fingers with beak of swan appearance - - Familial - 16y 8m - - Ludovica Volpi 00057922
0000044573 Microretrognathism, low posterior hairline, lateral hypoplasia of eyebrows, hypoplasia of nasal aleas, hypermobile fingers. Increased CPK and LDK. Myelodysplastic features. - - Familial - 14y 10m - - Ludovica Volpi 00057923
0000044574 Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile) - - Familial, autosomal recessive - 10y 00y06m - - Ludovica Volpi 00057924
0000044575 poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism. An affected elder sister (not tested) died during infancy - - Familial, autosomal recessive - 17y 00y05m - - Ludovica Volpi 00057925
0000044576 Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia - - Familial, autosomal recessive - 20y 00y06m - - Johan den Dunnen 00057926
0000045703 Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis - - Familial, autosomal recessive 36y 36y <01y - - Elisa Adele Colombo 00057918
0000045723 diagnosed as affected with Rothmund-Thomson syndrome; poikiloderma (<2y), nail dystrophy, low neutrophil count, hypo-cellular bone marrow - - Familial, autosomal recessive ? - <02y - - Elisa Adele Colombo 00059215
0000045725 poikiloderma on sun-exposed areas (arms, face and ears) and trunk; palmoplantar keratoderma; pachyonychia of the great toenails; photosensitivity; neutropenia; recurrent viral and bacterial infections; hepatosplenomegaly; nondescented or retractile testes; growth delay; elevated lactate dehydrogenase (>1000 U/L); transient thrombocytopenia; elevated ferritin (>1000 g/L) - - Familial, autosomal recessive 03y 04y - - - Elisa Adele Colombo 00059218
0000045726 poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays. - - Familial, autosomal recessive 00y04m 08y - - - Elisa Adele Colombo 00059219
0000045727 poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; maturation defects in bone marrow lineages; splenomegaly; chronic pulmonary infiltrates following chest X-rays. - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00059220
0000045728 poikiloderma, photosensitivity; atrophic scars on dorsum of limbs; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; transient thrombocytopenia and neutropenia; maturation defects in bone marrow lineages; chronic pulmonary infiltrates following chest X-rays. - - Familial, autosomal recessive - - - skin manifestations at 6m - Elisa Adele Colombo 00059221
0000068440 Birth weight, length, and head circumference were all normal. A rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. Multiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported. Nail, hair, teeth, palms and soles were all normal. No hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits. - - Familial, autosomal recessive 04y - 00y10m? - - Elisa Adele Colombo 00089042
0000068444 generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00089055
0000068448 poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis. - - Familial, autosomal recessive ? ? ? - - Elisa Adele Colombo 00089060
0000068450 poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00089040
0000068458 Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis. The patient received GCSF. Bone marrow studies were normal. - - Familial, autosomal recessive ? 01y 00y04m - - Elisa Adele Colombo 00089064
0000069481 poikiloderma; sparse eyelashes; dental problems; skeletal alterations; enlarged liver-spleen; phimosis; short stature; neutropenia; myelodysplastic changes - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00090108
0000069482 poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy - - Familial, autosomal recessive 02y? - 00y02m - - Elisa Adele Colombo 00090109
0000069483 cutaneous rash since age 5 m; neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; history of diarrhea; normal bone marrow studies. - - Familial, autosomal recessive - 00y09m 00y05m - - Elisa Adele Colombo 00090110
0000069484 low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows; failure to thrive and frequent regurgitations in early infancy. Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors. - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00090111
0000069486 poikiloderma; neutropenia; prominent forehead; dental problems. - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00090113
0000069487 Poikiloderma started as a rash since age 3 m; neutropenia; pachyonychia; hyperkeratosis; cellulitis; mastoiditis; history of mild anemia; increased myeloid precursors in bone marrow. - - Familial, autosomal recessive - 01y08m 00y03m - - Elisa Adele Colombo 00090114
0000069488 poikiloderma; neutropenia; nail dystrophy; leukoplakia; abnormal facies; bone marrow failure; immunodeficiency. - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00090115
0000069489 abnormal skin pigmentation; neutropenia, nail dystrophy; immune deficiency. - - Familial, autosomal recessive - - - - - Elisa Adele Colombo 00090116
0000127240 poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, sparse eyebrows, dental caries, failure to thrive, hypogonadism, delayed puberty, osteopenia, neutropenia, decreased NK cells, polyclonal hypergammaglobulinemia, recurrent pulmonary infections, bilateral bronchiectasis. - Poikiloderma with Neutropenia Familial, autosomal recessive - - - - - Elisa Adele Colombo 00154504
0000127241 generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis. - - Unknown - - 00y01m - - Elisa Adele Colombo 00154505
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