PITUITARY HORMONE DEFICIENCY, COMBINED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CPHD1
Number of Symptoms 29
OrphanetNr:
OMIM Id: 613038
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011220) Prominent forehead 137 / 7739
2
(HPO:0002007) Frontal bossing 366 / 7739
3
(HPO:0000270) Delayed cranial suture closure 33 / 7739
4
(HPO:0005280) Depressed nasal bridge 381 / 7739
5
(HPO:0000490) Deeply set eye 131 / 7739
6
(HPO:0000272) Malar flattening 277 / 7739
7
(HPO:0000158) Macroglossia 119 / 7739
8
(HPO:0000463) Anteverted nares 305 / 7739
9
(HPO:0003196) Short nose 264 / 7739
10
(HPO:0011800) Midface retrusion 221 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0000821) Hypothyroidism 141 / 7739
13
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
14
(HPO:0004322) Short stature 1232 / 7739
15
(HPO:0008850) Severe postnatal growth retardation 16 / 7739
16
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
(HPO:0001252) Muscular hypotonia 990 / 7739
18
(HPO:0001324) Muscle weakness 859 / 7739
19
(HPO:0010547) Muscle flaccidity 466 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
(OMIM) Low or absent growth hormone (GH) 5 / 7739
22
(OMIM) Myxedema 3 / 7739
23
(OMIM) Severe growth retardation in infancy 1 / 7739
24
(OMIM) Low or absent prolactin (PL) 3 / 7739
25
(OMIM) Open fontanelles (untreated hypothyroidism) 1 / 7739
26
(OMIM) Hypoplasia of anterior or entire pituitary gland (frequent) 1 / 7739
27
(OMIM) Low or absent thyroid-stimulating hormone (TSH) 4 / 7739
28
(OMIM) Short nose with anteverted nostrils 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the ...
Clinical Description OMIM Wit et al. (1989) described 2 unrelated Dutch families in which 4 of 10 children presented with total pituitary growth hormone (GH; 139250) and prolactin (PRL; 176760) deficiency and a partial thyrotropin (TSH; see 188540) deficiency. The GH ...
Molecular genetics OMIM Noting that a combined pituitary hormone deficiency (CPHD) in 2 strains of mice, Snell dwarf and dwarf Jackson, was caused by mutation in the Pit1 gene, Tatsumi et al. (1992) analyzed the PIT1 gene (POU1F1; 173110) in a ...