Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dwarfism (D004392)
..Starting node ..Laron Syndrome (D046150)
Child Nodes:
........Laron syndrome type 2 (C537871)
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abuse dwarfism syndrome (C535569)
..Achondroplasia (D000130) 21
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Alopecia contractures dwarfism mental retardation (C537051)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Anauxetic dysplasia (C538256)
..Astley-Kendall syndrome (C535392)
..Asymmetric Short Stature Syndrome (C566248)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Bangstad syndrome (C537902)
..Bird headed dwarfism Montreal type (C535448)
..Boomerang dysplasia (C536573)
..Brachydactylous dwarfism Mseleni type (C537086)
..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..Brunoni syndrome (C537408)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu Sanchez-Corona Fragoso syndrome (C535571)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cockayne Syndrome (D003057) 6
..Congenital Hypothyroidism (D003409) 17
..De Sanctis-Cacchione syndrome (C535992)
..Desbuquois syndrome (C535943)
..Diastrophic dysplasia (C536170)
..Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant (C565626)
..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Dwarfism tall vertebrae (C535725)
..Dwarfism, Familial, With Muscle Spasms (C563447)
..Dwarfism, Levi Type (C565081)
..Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
..Dwarfism, Pituitary (D004393) 11
..Dwarfism, Proportionate, with Hip Dislocation (C565614)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyssegmental dysplasia (C537998)
..Dyssegmental Dysplasia with Glaucoma (C563290)
..Fibrochondrogenesis (C562524)
..Gerodermia osteodysplastica (C537799)
..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..Hadziselimovic Syndrome (C567850)
..Hypochondroplasia (C562937)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Isolated Growth Hormone Deficiency, Type IB (C567564)
..Kenny Caffey syndrome (C537020)
..Keratosis follicularis dwarfism cerebral atrophy (C536158)
..Kniest dysplasia (C537207)
..Laplane Fontaine Lagardere syndrome (C537869)
..Laron Syndrome (D046150) 1
..Megaepiphyseal dwarfism (C536140) 1
..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..Mollica Pavone Antener syndrome (C535809)
..Mulibrey Nanism (D050336) 1
..Nievergelt syndrome (C536120)
..Oculopalatocerebral Syndrome (C564935)
..Oliver-McFarlane syndrome (C536554)
..Parastremmatic dwarfism (C537172)
..Pseudodiastrophic dysplasia (C535826)
..Rapadilino syndrome (C535288)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rommen Mueller Sybert syndrome (C535871)
..Ruvalcaba Syndrome (C579395)
..Seckel like syndrome type Buebel (C537532)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Short limb dwarfism Al Gazali type (C537598)
..Short Stature And Facioauriculothoracic Malformations (C566457)
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..Short Stature-Obesity Syndrome (C564821)
..Silver-Russell Syndrome (D056730) 1
..Singh Chhaparwal Dhanda syndrome (C537341)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Synovial Chondromatosis, Familial, with Dwarfism (C566087)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Three M Syndrome 2 (C567862)
..Tryptophanuria With Dwarfism (C562658)
..Weill-Marchesani Syndrome (D056846)
..Weill-Marchesani-Like Syndrome (C567710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6198

Name:

Laron Syndrome

Definition:

An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.

Alternative IDs:

OMIM:262500

ParentIDs:

MESH:D004392

TreeNumbers:

C05.116.099.343.679 |C16.320.240.750 |C19.297.656

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: D046150
MeSH: D046150
OMIM: 262500;

Genes: GHR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001367	Abnormal joint morphology
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0000592	Blue sclerae	HP:0040283
5	HP:0012569	Delayed menarche
6	HP:0002750	Delayed skeletal maturation
7	HP:0001620	High pitched voice
8	HP:0003510	Severe short stature
9	HP:0003026	Short long bone
10	HP:0000274	Small face

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000163.4(GHR):c.102G>A (p.Trp34Ter)	2690	GHR	Pathogenic	121909370	RCV000009189;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42629171	42629171	NM_000163.4:c.102G>A	NP_000154.1:p.Trp34Ter	NC_000005.9:g.42629171G>A	OMIM Allelic Variant:600946.0027	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.168C>A (p.Cys56Ter)	2690	GHR	Pathogenic	121909359	RCV000009166;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42689023	42689023	NM_000163.4:c.168C>A	NP_000154.1:p.Cys56Ter	NC_000005.9:g.42689023C>A	OMIM Allelic Variant:600946.0004	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.181C>T (p.Arg61Ter)	2690	GHR	Pathogenic	121909358	RCV000009165;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42689036	42689036	NM_000163.4:c.181C>T	NP_000154.1:p.Arg61Ter	NC_000005.9:g.42689036C>T	OMIM Allelic Variant:600946.0003	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.303C>A (p.Cys101Ter)	2690	GHR	Pathogenic	121909371	RCV000009191;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42695055	42695055	NM_000163.4:c.303C>A	NP_000154.1:p.Cys101Ter	NC_000005.9:g.42695055C>A	OMIM Allelic Variant:600946.0029	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.335G>C (p.Cys112Ser)	2690	GHR	Pathogenic	121909372	RCV000009194;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42695087	42695087	NM_000163.4:c.335G>C	NP_000154.1:p.Cys112Ser	NC_000005.9:g.42695087G>C	OMIM Allelic Variant:600946.0032	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.341T>C (p.Phe114Ser)	2690	GHR	Pathogenic	121909357	RCV000009164;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42695093	42695093	NM_000163.4:c.341T>C	NP_000154.1:p.Phe114Ser	NC_000005.9:g.42695093T>C	OMIM Allelic Variant:600946.0002	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.504T>G (p.His168Gln)	2690	GHR	Pathogenic	121909373	RCV000009195;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42699990	42699990	NM_000163.4:c.504T>G	NP_000154.1:p.His168Gln	NC_000005.9:g.42699990T>G	OMIM Allelic Variant:600946.0033	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.508G>C (p.Asp170His)	2690	GHR	Pathogenic	121909366	RCV000009185;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42699994	42699994	NM_000163.4:c.508G>C	NP_000154.1:p.Asp170His	NC_000005.9:g.42699994G>C	OMIM Allelic Variant:600946.0021	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.512T>C (p.Ile171Thr)	2690	GHR	Pathogenic	121909367	RCV000009186;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42699998	42699998	NM_000163.4:c.512T>C	NP_000154.1:p.Ile171Thr	NC_000005.9:g.42699998T>C	OMIM Allelic Variant:600946.0022	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.515A>C (p.Gln172Pro)	2690	GHR	Pathogenic	121909368	RCV000009177;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42700001	42700001	NM_000163.4:c.515A>C	NP_000154.1:p.Gln172Pro	NC_000005.9:g.42700001A>C	OMIM Allelic Variant:600946.0023	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.518T>G (p.Val173Gly)	2690	GHR	Pathogenic	121909369	RCV000009180;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42700004	42700004	NM_000163.4:c.518T>G	NP_000154.1:p.Val173Gly	NC_000005.9:g.42700004T>G	OMIM Allelic Variant:600946.0024	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.594A>G (p.Glu198=)	2690	GHR	Pathogenic	121909360	RCV000009167;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42700080	42700080	NM_000163.4:c.594A>G	NP_000154.1:p.Glu198=	NC_000005.9:g.42700080A>G	OMIM Allelic Variant:600946.0005	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.619-1G>T	2690	GHR	Pathogenic	730880281	RCV000009174;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42711308	42711308	NM_000163.4:c.619-1G>T		NC_000005.9:g.42711308G>T	OMIM Allelic Variant:600946.0012	C0271568 262500 Laron-type isolated somatotropin defect
NM_000163.4(GHR):c.703C>T (p.Arg235Ter)	2690	GHR	Pathogenic	121909363	RCV000009171;	N	MedGen:C0271568,OMIM:262500,ORPHA:633,SNOMED CT:38196001	5	42711393	42711393	NM_000163.4:c.703C>T	NP_000154.1:p.Arg235Ter	NC_000005.9:g.42711393C>T	OMIM Allelic Variant:600946.0009	C0271568 262500 Laron-type isolated somatotropin defect