Disease #06987 (CPHD (hormone deficiency, pituitary, combined))

Official abbreviation CPHD
Name hormone deficiency, pituitary, combined
OMIM ID -
Inheritance -
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 2 genes LHX3, LHX4
Associated tissues -
Disease features -
Remarks -
Date created 2022-12-22 15:47:43 +01:00 (CET)
Date last edited N/A


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00358925 FamPat1/2 PubMed: Musa 2021 4-generation family, 2 affected brothers M yes Egypt white - - - compensatory hormones: Cortisol, GH, T4, Testosterone CPHD see paper; ... POU1F1 POU1F1 1 2 Mohamed A. Elmonem
00428195 FamAPatII1/2/4 PubMed: Netchine 2000, PubMed: Rajab 2008 (phenotype update) 2-generation family, 3 affected (2 sisters, brother), unaffected heterozygous carrier parents F;M yes France - - - - - CPHD see paper; ..., severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; II1 moderate (60 dB), II4 mild (30 dB) sensorineural hearing loss LHX3 LHX3 1 3 Johan den Dunnen
00428196 FamBPatII1 PubMed: Netchine 2000, PubMed: Rajab 2008 (phenotype update) 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - - - - - CPHD see paper; ..., 1d-micropenis, cryptorchidism; severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; extreme mental retardation; deaf, no acoustic evoked potential LHX3 LHX3 1 1 Johan den Dunnen
00428197 patient PubMed: Bhangoo 2006 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States - - - - - CPHD see paper; ..., cyanosis, feeding difficulty, persistent jaundice, micropenis, poor weight gain, poor growth rate LHX3 LHX3 1 1 Johan den Dunnen
00428198 FamAPatA1 PubMed: Pfaeffle 2007 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes India - - - - - CPHD see paper; ..., birth weight 3000g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged LHX3 LHX3 1 2 Johan den Dunnen
00428199 FamAPatA2 PubMed: Pfaeffle 2007 sister F yes India - - - - - CPHD see paper; ..., frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged LHX3 LHX3 1 1 Johan den Dunnen
00428200 FamBPatB1 PubMed: Pfaeffle 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - CPHD see paper; ..., birth weight 3400g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic LHX3 LHX3 1 1 Johan den Dunnen
00428201 FamCPatC1 PubMed: Pfaeffle 2007 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Algeria - - - - - CPHD see paper; ..., birth weight 3250g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic LHX3 LHX3 1 1 Johan den Dunnen
00428202 FamDPatD1 PubMed: Pfaeffle 2007 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives M yes Lebanon - - - - - CPHD see paper; ..., birth weight 4000g; 9y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal LHX3 LHX3 1 3 Johan den Dunnen
00428203 FamDPatD2 PubMed: Pfaeffle 2007 sister F yes Lebanon - - - - - CPHD see paper; ..., birth weight 3500g; 8y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal LHX3 LHX3 1 1 Johan den Dunnen
00428204 FamDPatD3 PubMed: Pfaeffle 2007 sister F yes Lebanon - - - - - CPHD see paper; ..., no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, LHX3 LHX3 1 1 Johan den Dunnen
00428205 Fam1PatIV1 PubMed: Rajab 2008 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Oman - - - - - CPHD see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss LHX3 LHX3 1 3 Johan den Dunnen
00428206 Fam1PatIV4 PubMed: Rajab 2008 sister F yes Oman - - - - - CPHD see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss LHX3 LHX3 1 1 Johan den Dunnen
00428207 Fam1PatIV5 PubMed: Rajab 2008 brother M yes Oman - - - - - CPHD see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss LHX3 LHX3 1 1 Johan den Dunnen
00428208 Fam2PatII1 PubMed: Rajab 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Oman - - - - - CPHD see paper; ..., combined pituitary hormone deficiency, pituitary/skeletal abnormalities, sensorineural deafness LHX3 LHX3 1 1 Johan den Dunnen
00428209 FamPat1 PubMed: Kristrom 2009 14-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives M - Sweden - - - - - CPHD see paper; ..., birth 34w, vaginal induction due to Rh-immunization, weight 2460g, length 46cm; no congenital hip subluxation; myopia; 9y-scoliosis; 18y-scoliosis surgery; iritis recidiv (Posner-Schlossman syndrome), ersistent ductus arteriosus( 9y-surgery); deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 6 Johan den Dunnen
00428210 FamPat2 PubMed: Kristrom 2009 distant relative F - Sweden - - - - - CPHD see paper; ..., birth 41w+2, vaginal induction, weight 3250g, length 47cm; congenital hip subluxation; myopia; 7y-scoliosis; 11y-scoliosis surgery; persistent ductus arteriosus, pulmonary stenosis (spontaneous recovered); deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 1 Johan den Dunnen
00428211 FamPat3 PubMed: Kristrom 2009 distant relative M - Sweden - - - - - CPHD see paper; ..., birth 41w+1, partus normalis, weight 3410g, length 47cm; no congenital hip subluxation; no myopia; 5y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 1 Johan den Dunnen
00428212 FamPat4 PubMed: Kristrom 2009 distant relative M - Sweden - - - - - CPHD see paper; ..., birth 42w, weight 3660g, length 49cm; congenital hip subluxation; myopia; 7y-scoliosis; 12y-scoliosis surgery; asthma bronchiale; deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 1 Johan den Dunnen
00428213 FamPat5 PubMed: Kristrom 2009 distant relative M - Sweden - - - - - CPHD see paper; ..., birth 42w+6, vaginal induction, weight 3680g, length 51cm; no congenital hip subluxation; no myopia; 6y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 1 Johan den Dunnen
00428214 FamPat6 PubMed: Kristrom 2009 distant relative M - Sweden - - - - - CPHD see paper; ..., birth 37w+6, sectio due to bradycardia, weight 3044g, length 45cm; no congenital hip subluxation; deficient in GH, prolactin, TSH, FSH, and LH LHX3 LHX3 1 1 Johan den Dunnen
00428215 patient PubMed: Bonfig 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - CPHD see paper; ..., birth 39w, weight 3,930g, length 50cm respectively, short neck with limited rotation; 4d-respiratory failure, mechanical ventilation; <1w-recurrent hypoglycemia, normal ACTH, normal cortisol, growth hormone undetectable, IGF-1/IGF-BP3 below the detection; sensorineural hearing loss LHX3 LHX3 1 1 Johan den Dunnen
00428216 FamAPatA1/2/3 PubMed: Pfaeffle 2008 2-generation family, 3 affected, father/2 duaghters F;M no Switzerland - - - - - CPHD see paper; ..., short stature LHX4 LHX4 1 3 Johan den Dunnen
00428217 PatB1 PubMed: Pfaeffle 2008 2-generation family, 1 affected M - Macedonia - - - - - CPHD see paper; ..., short stature LHX4 LHX4 1 1 Johan den Dunnen
00428218 PatC1 PubMed: Pfaeffle 2008 2-generation family, 1 affected F - Germany - - - - - CPHD see paper; ..., short stature LHX4 LHX4 1 1 Johan den Dunnen
00431355 patient PubMed: Hemwong 2020 - M no Thailand - >06y - - - CPHD, OI , combined pituitary hormone deficiency - COL1A2, LHX4 2 1 Kim Worring
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