Pituitary Hormone Deficiency, Combined, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 221750

Orphanet ⁵⁹ ORPHA231720

MedGen ⁴² C3489787 C1857330

MeSH ⁴⁴ D007018

SNOMED-CT via HPO ⁶⁹ 258211005 60700002 95427009 more

UMLS ⁷³ C3489787

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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

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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

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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

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Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 3

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

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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

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Anatomical Context for Pituitary Hormone Deficiency, Combined, 3

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

⁴¹

Pituitary, Thyroid

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Publications for Pituitary Hormone Deficiency, Combined, 3

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Genes for Pituitary Hormone Deficiency, Combined, 3

Genes related to Pituitary Hormone Deficiency, Combined, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LHX3	LIM Homeobox 3	Protein Coding	1679.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	10835633 18407919 16394081 (more) 17327381

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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

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Expression for Pituitary Hormone Deficiency, Combined, 3

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

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Pathways for Pituitary Hormone Deficiency, Combined, 3

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GO Terms for Pituitary Hormone Deficiency, Combined, 3

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Sources for Pituitary Hormone Deficiency, Combined, 3

¹ BioSystems

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia