CPHD4
MCID: PTT044
MIFTS: 30

Pituitary Hormone Deficiency, Combined, 4 (CPHD4)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 4

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 4:

Name: Pituitary Hormone Deficiency, Combined, 4 56 73 13 71
Pituitary Hormone Deficiency, Combined 4 52 29 6
Cphd4 56 52 73
Short Stature-Pituitary and Cerebellar Defects-Small Sella Turcica Syndrome 52 58
Pituitary Hormone Deficiency, Combined, with or Without Cerebellar Defects 56
Pituitary Hormone Deficiency, Combined with or Without Cerebellar Defects 52
Short Stature, Pituitary and Cerebellar Defects, and Small Sella Turcica 56
Pituitary Hormone Deficiency Combined with or Without Cerebellar Defects 73
Short Stature, Pituitary and Cerebellar Defects and Small Sella Turcica 52
Short Stature Pituitary and Cerebellar Defects and Small Sella Turcica 73
Hormone Deficiency, Pituitary, Combined, Type 4 39

Characteristics:

Orphanet epidemiological data:

58
short stature-pituitary and cerebellar defects-small sella turcica syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
laboratory findings are variable


HPO:

31
pituitary hormone deficiency, combined, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM 56 262700
OMIM Phenotypic Series 56 PS613038
MeSH 43 D007018
Orphanet 58 ORPHA85442
MedGen 41 C2678408
UMLS 71 C2678408

Summaries for Pituitary Hormone Deficiency, Combined, 4

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85442 Definition Short stature -pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Visit the Orphanet disease page for more resources.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 4, also known as pituitary hormone deficiency, combined 4, is related to pituitary hormone deficiency, combined, 1. An important gene associated with Pituitary Hormone Deficiency, Combined, 4 is LHX4 (LIM Homeobox 4), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty Acyl-CoA Biosynthesis. Affiliated tissues include pituitary, thyroid and tonsil, and related phenotypes are small sella turcica and hypothyroidism

UniProtKB/Swiss-Prot : 73 Pituitary hormone deficiency, combined, 4: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica.

More information from OMIM: 262700 PS613038

Related Diseases for Pituitary Hormone Deficiency, Combined, 4

Diseases related to Pituitary Hormone Deficiency, Combined, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pituitary hormone deficiency, combined, 1 8.8 LHX4-AS1 LHX4 ACBD6

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 4

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 small sella turcica 31 occasional (7.5%) HP:0010538
2 hypothyroidism 31 HP:0000821
3 hypoglycemia 31 HP:0001943
4 severe postnatal growth retardation 31 HP:0008850
5 adrenal insufficiency 31 HP:0000846
6 marked delay in bone age 31 HP:0003799
7 pituitary dwarfism 31 HP:0000839

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal:
delayed bone age

Skeletal Skull:
very small sella turcica (some)
abnormal petrous bone

Metabolic Features:
hypoglycemia

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent luteinizing hormone (lh)
low or absent adrenocorticotropic hormone (acth)
low or absent thyroid-stimulating hormone (tsh)
low or absent follicle stimulating hormone (fsh)

Endocrine Features:
hypothyroidism (if untreated)

Clinical features from OMIM:

262700

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 4

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 4

Genetic Tests for Pituitary Hormone Deficiency, Combined, 4

Genetic tests related to Pituitary Hormone Deficiency, Combined, 4:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 4 29 LHX4

Anatomical Context for Pituitary Hormone Deficiency, Combined, 4

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 4:

40
Pituitary, Thyroid, Tonsil, Bone

Publications for Pituitary Hormone Deficiency, Combined, 4

Articles related to Pituitary Hormone Deficiency, Combined, 4:

# Title Authors PMID Year
1
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. 56 6
18073311 2008
2
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. 56 6
17527005 2007
3
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. 56 6
11567216 2001
4
A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. 6
18445675 2008
5
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 6
10323394 1999
6
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 6
9745452 1998
7
Familial pituitary dwarfism associated with an abnormal sella turcica. 56
4305958 1969

Variations for Pituitary Hormone Deficiency, Combined, 4

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 4:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LHX4 NM_033343.4(LHX4):c.452-2A>CSNV Pathogenic 189234 rs786204780 1:180240513-180240513 1:180271378-180271378
2 LHX4 NM_033343.4(LHX4):c.607-1G>CSNV Pathogenic 7506 rs748268631 1:180240969-180240969 1:180271834-180271834
3 LHX4 NM_033343.4(LHX4):c.628G>C (p.Ala210Pro)SNV Pathogenic 7507 rs121912641 1:180240991-180240991 1:180271856-180271856
4 LHX4 NM_033343.4(LHX4):c.569T>G (p.Leu190Arg)SNV Pathogenic 7509 rs121912643 1:180240632-180240632 1:180271497-180271497
5 LHX4 NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr)SNV Pathogenic 7510 rs121912644 1:180243703-180243703 1:180274568-180274568
6 LHX4 NM_033343.4(LHX4):c.293dup (p.Thr99fs)duplication Pathogenic 18444 rs587776662 1:180235565-180235566 1:180266430-180266431
7 LHX4 NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)SNV Likely benign 7508 rs121912642 1:180235528-180235528 1:180266393-180266393
8 LHX4 NM_033343.4(LHX4):c.608T>G (p.Val203Gly)SNV Likely benign 801582 1:180240971-180240971 1:180271836-180271836
9 LHX4 NM_033343.4(LHX4):c.704G>A (p.Arg235Gln)SNV Likely benign 801583 1:180241067-180241067 1:180271932-180271932
10 LHX4 NM_033343.4(LHX4):c.776G>A (p.Arg259Gln)SNV Likely benign 801584 1:180241139-180241139 1:180272004-180272004
11 LHX4 NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)SNV Benign 262225 rs7536561 1:180243524-180243524 1:180274389-180274389
12 LHX4 NM_033343.4(LHX4):c.1052C>T (p.Thr351Met)SNV not provided 441033 rs200119009 1:180243593-180243593 1:180274458-180274458

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 4:

73
# Symbol AA change Variation ID SNP ID
1 LHX4 p.Arg84Cys VAR_058715 rs121912642
2 LHX4 p.Leu190Arg VAR_058716 rs121912643
3 LHX4 p.Ala210Pro VAR_058717 rs121912641
4 LHX4 p.Pro389Thr VAR_063241 rs145433128

Expression for Pituitary Hormone Deficiency, Combined, 4

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 4.

Pathways for Pituitary Hormone Deficiency, Combined, 4

GO Terms for Pituitary Hormone Deficiency, Combined, 4

Biological processes related to Pituitary Hormone Deficiency, Combined, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acyl-CoA metabolic process GO:0006637 8.62 LHX4-AS1 ACBD6

Molecular functions related to Pituitary Hormone Deficiency, Combined, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 8.62 LHX4-AS1 ACBD6

Sources for Pituitary Hormone Deficiency, Combined, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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