Rhizomelic Limb Shortening with Dysmorphic Features disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Rhizomelic Limb Shortening with Dysmorphic Features

MalaCards integrated aliases for Rhizomelic Limb Shortening with Dysmorphic Features:

Name: Rhizomelic Limb Shortening with Dysmorphic Features ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Rlsdf ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
based on report of 2 unrelated patients (last curated march 2020)
aside from rhizomelic limb shortening and obesity, other features are variable

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

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Summaries for Rhizomelic Limb Shortening with Dysmorphic Features

OMIM®: ⁵⁷ Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia (Sajan et al., 2019). (618821) (Updated 08-Dec-2022)

MalaCards based summary: Rhizomelic Limb Shortening with Dysmorphic Features, is also known as rlsdf. An important gene associated with Rhizomelic Limb Shortening with Dysmorphic Features is PKDCC (Protein Kinase Domain Containing, Cytoplasmic). Affiliated tissues include kidney, and related phenotypes are macrocephaly and short neck

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum.

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Related Diseases for Rhizomelic Limb Shortening with Dysmorphic Features

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Symptoms & Phenotypes for Rhizomelic Limb Shortening with Dysmorphic Features

Human phenotypes related to Rhizomelic Limb Shortening with Dysmorphic Features:

³⁰ (show all 27)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³⁰	Very rare (1%)	HP:0000256
2	short neck ³⁰	Very rare (1%)	HP:0000470
3	wide nasal bridge ³⁰	Very rare (1%)	HP:0000431
4	smooth philtrum ³⁰	Very rare (1%)	HP:0000319
5	prominent forehead ³⁰	Very rare (1%)	HP:0011220
6	micrognathia ³⁰	Very rare (1%)	HP:0000347
7	obesity ³⁰	Very rare (1%)	HP:0001513
8	arthralgia ³⁰	Very rare (1%)	HP:0002829
9	downslanted palpebral fissures ³⁰	Very rare (1%)	HP:0000494
10	laryngomalacia ³⁰	Very rare (1%)	HP:0001601
11	long philtrum ³⁰	Very rare (1%)	HP:0000343
12	patellar dislocation ³⁰	Very rare (1%)	HP:0002999
13	proptosis ³⁰	Very rare (1%)	HP:0000520
14	short thumb ³⁰	Very rare (1%)	HP:0009778
15	acanthosis nigricans ³⁰	Very rare (1%)	HP:0000956
16	plagiocephaly ³⁰	Very rare (1%)	HP:0001357
17	single transverse palmar crease ³⁰	Very rare (1%)	HP:0000954
18	rhizomelia ³⁰	Very rare (1%)	HP:0008905
19	short 5th finger ³⁰	Very rare (1%)	HP:0009237
20	brisk reflexes ³⁰	Very rare (1%)	HP:0001348
21	prominent fingertip pads ³⁰	Very rare (1%)	HP:0001212
22	patent foramen ovale ³⁰	Very rare (1%)	HP:0001655
23	limited shoulder movement ³⁰	Very rare (1%)	HP:0006467
24	delayed cns myelination ³⁰	Very rare (1%)	HP:0002188
25	hyperextensibility of the finger joints ³⁰	Very rare (1%)	HP:0001187
26	clinodactyly of the 3rd finger ³⁰	Very rare (1%)	HP:0040024
27	stage 1 chronic kidney disease ³⁰	Very rare (1%)	HP:0012623

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Head:
macrocephaly

Head And Neck Neck:
short neck
branchial cleft defect

Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
long philtrum

Respiratory Larynx:
laryngomalacia

Cardiovascular Heart:
patent foramen ovale
tricuspid regurgitation, mild

Skeletal Hands:
hyperextensible fingers
short thumbs
chronic joint pain
short fifth fingers bilaterally

Neurologic Central Nervous System:
delayed myelination, mild
hypotonia, central

Head And Neck Ears:
hearing loss, conductive (bilateral mild)

Genitourinary Kidneys:
stage 1 renal disease, chronic

Skeletal Skull:
macrocephaly
plagiocephaly, mild

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Weight:
obesity

Skin Nails Hair Skin:
acanthosis nigricans
prominent fingertip pads
palmar crease, unilateral

Head And Neck Eyes:
downslanting palpebral fissures
proptosis, mild

Skeletal Limbs:
chronic joint pain
hypoplastic distal ulna
rhizomelic shortening of long bones
mesomelic shortening of long bones
juvenile idiopathic arthritis
more

Neurologic Peripheral Nervous System:
brisk deep tendon reflexes

Abdomen Gastrointestinal:
polypoid anal mass

Clinical features from OMIM®:

618821 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Rhizomelic Limb Shortening with Dysmorphic Features

Search Clinical Trials, NIH Clinical Center for Rhizomelic Limb Shortening with Dysmorphic Features

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Genetic Tests for Rhizomelic Limb Shortening with Dysmorphic Features

Genetic tests related to Rhizomelic Limb Shortening with Dysmorphic Features:

#	Genetic test	Affiliating Genes
1	Rhizomelic Limb Shortening with Dysmorphic Features ²⁸	PKDCC

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Anatomical Context for Rhizomelic Limb Shortening with Dysmorphic Features

Organs/tissues related to Rhizomelic Limb Shortening with Dysmorphic Features:

MalaCards : Kidney

ODiseA: Kidney

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Publications for Rhizomelic Limb Shortening with Dysmorphic Features

Articles related to Rhizomelic Limb Shortening with Dysmorphic Features:

#	Title	Authors	PMID	Year
1	Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. ⁵⁷ ⁵	Sajan SA...Tang S	30478137	2019

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Genes for Rhizomelic Limb Shortening with Dysmorphic Features

Genes related to Rhizomelic Limb Shortening with Dysmorphic Features (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PKDCC	Protein Kinase Domain Containing, Cytoplasmic	Protein Coding	1033.19	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	30478137

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Variations for Rhizomelic Limb Shortening with Dysmorphic Features

ClinVar genetic disease variations for Rhizomelic Limb Shortening with Dysmorphic Features:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PKDCC	NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter)	SNV	Pathogenic	521769	rs761532715	GRCh37: 2:42280390-42280390 GRCh38: 2:42053250-42053250
2	PKDCC	NM_138370.3(PKDCC):c.639+1G>T	SNV	Pathogenic	522098	rs763243200	GRCh37: 2:42275979-42275979 GRCh38: 2:42048839-42048839
3	PKDCC	NM_138370.3(PKDCC):c.939dup (p.Leu314fs)	DUP	Pathogenic	1727206		GRCh37: 2:42281351-42281352 GRCh38: 2:42054211-42054212
4	PKDCC	NM_138370.3(PKDCC):c.1127G>A (p.Trp376Ter)	SNV	Likely Pathogenic	1334386		GRCh37: 2:42282438-42282438 GRCh38: 2:42055298-42055298
5	PKDCC	NM_138370.3(PKDCC):c.325T>C (p.Ser109Pro)	SNV	Benign	1327044		GRCh37: 2:42275664-42275664 GRCh38: 2:42048524-42048524
6	PKDCC	NM_138370.3(PKDCC):c.387C>G (p.Arg129=)	SNV	Benign	1327045		GRCh37: 2:42275726-42275726 GRCh38: 2:42048586-42048586
7	PKDCC	NM_138370.3(PKDCC):c.480T>C (p.Gly160=)	SNV	Benign	1327046		GRCh37: 2:42275819-42275819 GRCh38: 2:42048679-42048679

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Expression for Rhizomelic Limb Shortening with Dysmorphic Features

Search GEO for disease gene expression data for Rhizomelic Limb Shortening with Dysmorphic Features.

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Pathways for Rhizomelic Limb Shortening with Dysmorphic Features

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GO Terms for Rhizomelic Limb Shortening with Dysmorphic Features

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Sources for Rhizomelic Limb Shortening with Dysmorphic Features

¹ BitterDB

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³⁶ LifeMap

³⁷ LncRNADisease

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁵ R&D Systems

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

RLSDF MCID: RHZ016 MIFTS: 20	Rhizomelic Limb Shortening with Dysmorphic Features (RLSDF) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Rhizomelic Limb Shortening with Dysmorphic Features (RLSDF)

Aliases & Classifications for Rhizomelic Limb Shortening with Dysmorphic Features

MalaCards integrated aliases for Rhizomelic Limb Shortening with Dysmorphic Features:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Rhizomelic Limb Shortening with Dysmorphic Features

Related Diseases for Rhizomelic Limb Shortening with Dysmorphic Features

Symptoms & Phenotypes for Rhizomelic Limb Shortening with Dysmorphic Features

Human phenotypes related to Rhizomelic Limb Shortening with Dysmorphic Features:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Rhizomelic Limb Shortening with Dysmorphic Features

Genetic Tests for Rhizomelic Limb Shortening with Dysmorphic Features

Genetic tests related to Rhizomelic Limb Shortening with Dysmorphic Features:

Anatomical Context for Rhizomelic Limb Shortening with Dysmorphic Features

Organs/tissues related to Rhizomelic Limb Shortening with Dysmorphic Features:

Publications for Rhizomelic Limb Shortening with Dysmorphic Features

Articles related to Rhizomelic Limb Shortening with Dysmorphic Features:

Genes for Rhizomelic Limb Shortening with Dysmorphic Features

Genes related to Rhizomelic Limb Shortening with Dysmorphic Features (1 elite genes):

Variations for Rhizomelic Limb Shortening with Dysmorphic Features

ClinVar genetic disease variations for Rhizomelic Limb Shortening with Dysmorphic Features:

Expression for Rhizomelic Limb Shortening with Dysmorphic Features

Pathways for Rhizomelic Limb Shortening with Dysmorphic Features

GO Terms for Rhizomelic Limb Shortening with Dysmorphic Features

Sources for Rhizomelic Limb Shortening with Dysmorphic Features