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 58 76 13 74
Pituitary Hormone Deficiency, Combined 4 54 30 6
Cphd4 58 54 76
Short Stature-Pituitary and Cerebellar Defects-Small Sella Turcica Syndrome 54 60
Pituitary Hormone Deficiency, Combined, with or Without Cerebellar Defects 58
Pituitary Hormone Deficiency, Combined with or Without Cerebellar Defects 54
Short Stature, Pituitary and Cerebellar Defects, and Small Sella Turcica 58
Pituitary Hormone Deficiency Combined with or Without Cerebellar Defects 76
Short Stature, Pituitary and Cerebellar Defects and Small Sella Turcica 54
Short Stature Pituitary and Cerebellar Defects and Small Sella Turcica 76
Hormone Deficiency, Pituitary, Combined, Type 4 41

Characteristics:

Orphanet epidemiological data:

60
short stature-pituitary and cerebellar defects-small sella turcica syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
laboratory findings are variable


HPO:

33
pituitary hormone deficiency, combined, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Pituitary Hormone Deficiency, Combined, 4

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85442Disease definitionShort 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 inheritedtrait and is caused by a germline mutation within the LIM-homeoboxtranscription 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 : 76 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.

Description from OMIM: 262700

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 9.1 ACBD6 LHX4 LHX4-AS1

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 4

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 small sella turcica 33 occasional (7.5%) HP:0010538
2 hypothyroidism 33 HP:0000821
3 hypoglycemia 33 HP:0001943
4 severe postnatal growth retardation 33 HP:0008850
5 adrenal insufficiency 33 HP:0000846
6 marked delay in bone age 33 HP:0003799
7 pituitary dwarfism 33 HP:0000839

Symptoms via clinical synopsis from OMIM:

58
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 30 LHX4

Anatomical Context for Pituitary Hormone Deficiency, Combined, 4

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

42
Pituitary, Thyroid, Tonsil, Bone

Publications for Pituitary Hormone Deficiency, Combined, 4

Articles related to Pituitary Hormone Deficiency, Combined, 4:

# Title Authors Year
1
A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. ( 18445675 )
2008
2
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. ( 18073311 )
2008
3
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. ( 17527005 )
2007
4
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. ( 11567216 )
2001

Variations for Pituitary Hormone Deficiency, Combined, 4

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

76
# 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

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 LHX4 NM_033343.4(LHX4): c.607-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 1, 180240969: 180240969
2 LHX4 NM_033343.4(LHX4): c.607-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 1, 180271834: 180271834
3 LHX4 NM_033343.3(LHX4): c.628G> C (p.Ala210Pro) single nucleotide variant Pathogenic rs121912641 GRCh37 Chromosome 1, 180240991: 180240991
4 LHX4 NM_033343.3(LHX4): c.628G> C (p.Ala210Pro) single nucleotide variant Pathogenic rs121912641 GRCh38 Chromosome 1, 180271856: 180271856
5 LHX4 NM_033343.3(LHX4): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121912642 GRCh37 Chromosome 1, 180235528: 180235528
6 LHX4 NM_033343.3(LHX4): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121912642 GRCh38 Chromosome 1, 180266393: 180266393
7 LHX4 NM_033343.3(LHX4): c.569T> G (p.Leu190Arg) single nucleotide variant Pathogenic rs121912643 GRCh37 Chromosome 1, 180240632: 180240632
8 LHX4 NM_033343.3(LHX4): c.569T> G (p.Leu190Arg) single nucleotide variant Pathogenic rs121912643 GRCh38 Chromosome 1, 180271497: 180271497
9 LHX4 NM_033343.3(LHX4): c.1162C> A (p.Pro388Thr) single nucleotide variant Pathogenic rs121912644 GRCh37 Chromosome 1, 180243703: 180243703
10 LHX4 NM_033343.3(LHX4): c.1162C> A (p.Pro388Thr) single nucleotide variant Pathogenic rs121912644 GRCh38 Chromosome 1, 180274568: 180274568
11 LHX4 NM_033343.3(LHX4): c.293dupC (p.Thr99Asnfs) duplication Pathogenic rs587776662 GRCh37 Chromosome 1, 180235571: 180235571
12 LHX4 NM_033343.3(LHX4): c.293dupC (p.Thr99Asnfs) duplication Pathogenic rs587776662 GRCh38 Chromosome 1, 180266436: 180266436
13 LHX4 NM_033343.3(LHX4): c.452-2A> C single nucleotide variant Pathogenic rs786204780 GRCh37 Chromosome 1, 180240513: 180240513
14 LHX4 NM_033343.3(LHX4): c.452-2A> C single nucleotide variant Pathogenic rs786204780 GRCh38 Chromosome 1, 180271378: 180271378
15 LHX4 NM_033343.3(LHX4): c.983A> G (p.Asn328Ser) single nucleotide variant Benign rs7536561 GRCh37 Chromosome 1, 180243524: 180243524
16 LHX4 NM_033343.3(LHX4): c.983A> G (p.Asn328Ser) single nucleotide variant Benign rs7536561 GRCh38 Chromosome 1, 180274389: 180274389
17 LHX4 NM_033343.3(LHX4): c.1052C> T (p.Thr351Met) single nucleotide variant not provided rs200119009 GRCh37 Chromosome 1, 180243593: 180243593
18 LHX4 NM_033343.3(LHX4): c.1052C> T (p.Thr351Met) single nucleotide variant not provided rs200119009 GRCh38 Chromosome 1, 180274458: 180274458

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 ACBD6 LHX4-AS1

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 ACBD6 LHX4-AS1

Sources for Pituitary Hormone Deficiency, Combined, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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