MCID: PTT047
MIFTS: 24

Pituitary Hormone Deficiency, Combined, 3

Categories: Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 3

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 3:

Name: Pituitary Hormone Deficiency, Combined, 3 57 75 13 73
Pituitary Hormone Deficiency, Combined 3 53 29 6
Cphd3 57 53 75
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome 59
Non-Acquired Combined Pituitary Hormone Deficiency-Deafness-Rigid Cervical Spine Syndrome 59
Pituitary Hormone Deficiency, Combined, with Rigid Cervical Spine 57
Pituitary Hormone Deficiency, Combined with Rigid Cervical Spine 53
Combined Pituitary Hormone Deficiency with Rigid Cervical Spine 75
Deafness, Sensorineural, with Pituitary Dwarfism 57
Deafness, Sensorineural with Pituitary Dwarfism 53
Hormone Deficiency, Pituitary, Combined, Type 3 40
Sensorineural Deafness with Pituitary Dwarfism 75
Winkelmann-Bethge-Pfeiffer Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pituitary hormone deficiency, combined, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pituitary Hormone Deficiency, Combined, 3

UniProtKB/Swiss-Prot : 75 Pituitary hormone deficiency, combined, 3: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 3, also known as pituitary hormone deficiency, combined 3, is related to winkelman bethge pfeiffer syndrome. An important gene associated with Pituitary Hormone Deficiency, Combined, 3 is LHX3 (LIM Homeobox 3). Affiliated tissues include pituitary and thyroid, and related phenotypes are sensorineural hearing impairment and short neck

Description from OMIM: 221750

Related Diseases for Pituitary Hormone Deficiency, Combined, 3

Diseases related to Pituitary Hormone Deficiency, Combined, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 winkelman bethge pfeiffer syndrome 11.3

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 3

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
anterior pituitary hypoplasia
anterior pituitary enlargement

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent follicle-stimulating hormone (fsh)
low or absent luteinizing hormone (lh)
low or absent thyroid-stimulating hormone (tsh)
low or absent prolactin (pl)
more
Head And Neck Neck:
short neck with limited rotation

Growth Height:
short stature (if untreated)

Head And Neck Ears:
deafness, sensorineural, variable

Neurologic Central Nervous System:
mental retardation (if untreated)


Clinical features from OMIM:

221750

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 3:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 growth hormone deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000824
4 thoracolumbar kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003423
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 gonadotropin deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008213
7 pituitary hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008245
8 anterior pituitary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010627
9 adrenocorticotropic hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0011748
10 hypothalamic luteinizing hormone-releasing hormone deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0012287
11 pituitary dwarfism 32 HP:0000839
12 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 3

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 3

Genetic Tests for Pituitary Hormone Deficiency, Combined, 3

Genetic tests related to Pituitary Hormone Deficiency, Combined, 3:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 3 29 LHX3

Anatomical Context for Pituitary Hormone Deficiency, Combined, 3

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 3:

41
Pituitary, Thyroid

Publications for Pituitary Hormone Deficiency, Combined, 3

Variations for Pituitary Hormone Deficiency, Combined, 3

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 3:

75
# Symbol AA change Variation ID SNP ID
1 LHX3 p.Tyr111Cys VAR_010713 rs104894117
2 LHX3 p.Ala210Val VAR_063240 rs137854503

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 3:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 LHX3 NM_178138.5(LHX3): c.332A> G (p.Tyr111Cys) single nucleotide variant Pathogenic rs104894117 GRCh37 Chromosome 9, 139091646: 139091646
2 LHX3 NM_178138.5(LHX3): c.332A> G (p.Tyr111Cys) single nucleotide variant Pathogenic rs104894117 GRCh38 Chromosome 9, 136199800: 136199800
3 LHX3 NM_178138.5(LHX3): c.452_454+20del23 deletion Pathogenic rs587776711 GRCh37 Chromosome 9, 139091504: 139091526
4 LHX3 NM_178138.5(LHX3): c.452_454+20del23 deletion Pathogenic rs587776711 GRCh38 Chromosome 9, 136199658: 136199680
5 LHX3 NM_178138.5(LHX3): c.96delT (p.Gly33Alafs) deletion Pathogenic rs587776712 GRCh38 Chromosome 9, 136200737: 136200737
6 LHX3 NM_178138.5(LHX3): c.96delT (p.Gly33Alafs) deletion Pathogenic rs587776712 GRCh37 Chromosome 9, 139092583: 139092583
7 LHX3 NM_178138.5(LHX3): c.629C> T (p.Ala210Val) single nucleotide variant Pathogenic rs137854503 GRCh37 Chromosome 9, 139090644: 139090644
8 LHX3 NM_178138.5(LHX3): c.629C> T (p.Ala210Val) single nucleotide variant Pathogenic rs137854503 GRCh38 Chromosome 9, 136198798: 136198798
9 LHX3 NM_178138.5(LHX3): c.287_288delGCinsTCCT (p.Gly96Valfs) indel Pathogenic rs137854504 GRCh37 Chromosome 9, 139091690: 139091691
10 LHX3 NM_178138.5(LHX3): c.287_288delGCinsTCCT (p.Gly96Valfs) indel Pathogenic rs137854504 GRCh38 Chromosome 9, 136199844: 136199845
11 LHX3 NC_000009.12: g.(?_136197325)_(136205012_?)del deletion Pathogenic GRCh38 Chromosome 9, 136197325: 136205012
12 LHX3 NM_178138.5(LHX3): c.672G> A (p.Trp224Ter) single nucleotide variant Pathogenic rs137854505 GRCh37 Chromosome 9, 139090601: 139090601
13 LHX3 NM_178138.5(LHX3): c.672G> A (p.Trp224Ter) single nucleotide variant Pathogenic rs137854505 GRCh38 Chromosome 9, 136198755: 136198755
14 LHX3 NG_008097.1: g.8826_11912del3087 deletion Pathogenic GRCh38 Chromosome 9, 136198198: 136201284
15 LHX3 NM_178138.5(LHX3): c.133A> T (p.Lys45Ter) single nucleotide variant Pathogenic rs137854506 GRCh37 Chromosome 9, 139092546: 139092546
16 LHX3 NM_178138.5(LHX3): c.133A> T (p.Lys45Ter) single nucleotide variant Pathogenic rs137854506 GRCh38 Chromosome 9, 136200700: 136200700

Expression for Pituitary Hormone Deficiency, Combined, 3

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 3.

Pathways for Pituitary Hormone Deficiency, Combined, 3

GO Terms for Pituitary Hormone Deficiency, Combined, 3

Sources for Pituitary Hormone Deficiency, Combined, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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