Nonacquired combined pituitary hormone deficiency with spine abnormalities

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE
CPHD3
Number of Symptoms 20
OrphanetNr: 231720
OMIM Id: 221750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0000824) Growth hormone deficiency 56 / 7739
5
(HPO:0000839) Pituitary dwarfism 7 / 7739
6
(HPO:0010627) Anterior pituitary hypoplasia 6 / 7739
7
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
8
(HPO:0008213) Gonadotropin deficiency 6 / 7739
9
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
(OMIM) Short neck with limited rotation 1 / 7739
11
(OMIM) Low or absent thyroid-stimulating hormone (TSH) 4 / 7739
12
(OMIM) Deafness, sensorineural, variable 2 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Low or absent growth hormone (GH) 5 / 7739
15
(HPO:0040075) Hypopituitarism Very frequent [Orphanet] 32 / 7739
16
(OMIM) Anterior pituitary enlargement 1 / 7739
17
(OMIM) Low or absent luteinizing hormone (LH) 4 / 7739
18
(OMIM) Low or absent adrenocorticotropic hormone (ACTH) in some patients 1 / 7739
19
(OMIM) Low or absent prolactin (PL) 3 / 7739
20
(OMIM) Low or absent follicle stimulating hormone (FSH) 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Winkelmann et al. (1972) described 2 sisters with inner ear deafness and asexual ateleiotic dwarfism. Deficiency of growth hormone and gonadotropin was demonstrated by radioimmunoassay. The parents were not known to be related.

Netchine et al. ...

Molecular genetics OMIM Using a candidate-gene approach based on mouse studies involving the LHX3 gene (see 600577 and Sheng et al., 1996), Netchine et al. (2000) screened LHX3 in affected members of 2 unrelated consanguineous families with CPHD involving all of ...