Peripheral neuropathy, and Hypopigmentation of the skin

Diseases related with Peripheral neuropathy and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Hypopigmentation of the skin that can help you solving undiagnosed cases.


Top matches:

Low match ATTENUATED CHÉDIAK-HIGASHI SYNDROME


Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ATTENUATED CHÉDIAK-HIGASHI SYNDROME Is also known as atypical chÉdiak-higashi syndrome

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about ATTENUATED CHÉDIAK-HIGASHI SYNDROME

Low match WAARDENBURG SYNDROME, TYPE 4A; WS4A


Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

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Other less relevant matches:

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Low match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypopigmented skin patches Nystagmus Hepatomegaly Hypertension Spastic paraparesis Premature graying of hair Spasticity Hyporeflexia Fever Cutaneous photosensitivity Generalized hypotonia Pain Gait disturbance Splenomegaly Abdominal pain Hepatosplenomegaly White hair Short stature Peripheral demyelination Sensorineural hearing impairment Photophobia Abnormality of extrapyramidal motor function Muscular hypotonia Hearing impairment

Rare Symptoms - Less than 30% cases


Coma Carcinoma Brain atrophy Constipation Failure to thrive Strabismus Vomiting Hypopigmentation of hair Decreased nerve conduction velocity Cryptorchidism Hypogonadism Growth delay Peripheral axonal neuropathy Anemia Nausea Tetraplegia Developmental regression Thin skin Neoplasm of the skin Microcephaly Cognitive impairment Abnormality of the nervous system Spastic paraplegia Jaundice Blepharitis Melanocytic nevus Myopia Mental deterioration Paraplegia Areflexia Cafe-au-lait spot White forelock Edema Abnormality of movement Microcolon White eyebrow Bruising susceptibility Epistaxis Skin ulcer Gingival bleeding Recurrent respiratory infections Heterochromia iridis Blue irides Generalized hypopigmentation Intestinal obstruction Leukodystrophy Wide nasal bridge Aganglionic megacolon Telecanthus Thrombocytopenia White eyelashes Abnormality of the eye Abnormal bleeding Hyperpigmentation of the skin Immunodeficiency Hypertriglyceridemia Polyneuropathy Retinopathy Leukemia Reduced visual acuity Abnormal pyramidal sign Papilloma Visual impairment Skeletal muscle atrophy Distal muscle weakness Conjunctival telangiectasia Tremor Atrial septal defect CNS hypomyelination Neonatal hypotonia Cerebellar atrophy Recurrent infections Difficulty walking Arthrogryposis multiplex congenita Rigidity Anosmia Neoplasm of the eye Entropion Myoclonus Craniofacial hyperostosis Poikiloderma Paresthesia Lymphadenopathy Falls Sensory neuropathy Neurodegeneration Prominent nasal bridge Distal amyotrophy Portal hypertension Meconium ileus Congenital nystagmus Hypohidrosis Abnormal eyebrow morphology Demyelinating peripheral neuropathy Ileus Intestinal pseudo-obstruction Alacrima Cerebral dysmyelination Decreased lacrimation Spotty hyperpigmentation Spastic tetraplegia Peripheral hypomyelination Neutropenia Spasmus nutans Hypoplasia of the cochlea Neonatal asphyxia Myelin outfoldings Abnormal autonomic nervous system physiology Underdeveloped nasal alae Distal sensory impairment Defective DNA repair after ultraviolet radiation damage Hypoplasia of the semicircular canal Absent brainstem auditory responses Dysmyelinating leukodystrophy Torticollis Long-segment aganglionic megacolon Ankyloblepharon Cranial nerve paralysis Parkinsonism Erythema Scoliosis Cataract Optic atrophy Fatigue Macule Abnormality of the dentition Hypermelanotic macule Delayed skeletal maturation Alopecia Cerebral cortical atrophy Hyperkeratosis Arthralgia EEG abnormality Squamous cell carcinoma Dry skin Coloboma Aminoaciduria Dermal atrophy Melanoma Reduced tendon reflexes Intellectual disability, progressive Opacification of the corneal stroma Conjunctivitis Bone marrow hypocellularity Decreased testicular size Abnormal vertebral morphology Thickened skin Ectropion Telangiectasia Keratitis Choreoathetosis Pruritus Generalized hypopigmentation of hair Lymphoma Gingivitis Gastrointestinal hemorrhage Bradykinesia Pancytopenia Amblyopia Foot dorsiflexor weakness Leukopenia Pterygium Abnormality of vision Albinism Cerebral hemorrhage Sensory axonal neuropathy Resting tremor Generalized hyperpigmentation Iris hypopigmentation Telangiectasia of the skin Recurrent systemic pyogenic infections Recurrent bacterial skin infections Freckling Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Macular hypoplasia Periodontitis Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration Fair hair Abnormality of multiple cell lineages in the bone marrow Metabolic acidosis Pes cavus Hepatocellular carcinoma Nausea and vomiting Confusion Tachycardia Abnormal blistering of the skin Psychosis Hypertrichosis Hallucinations Aspiration Chronic kidney disease Agitation Milia Fragile skin Restlessness Insomnia Visual hallucinations Paralysis Babinski sign Nevus Sepsis Lower limb muscle weakness Hip dislocation Retrognathia Kyphoscoliosis Hyperreflexia Neoplasm of the liver Flexion contracture Micrognathia Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Scarring Abnormality of the kidney Waddling gait Subcutaneous nodule Hypertonia Incoordination Abnormality of coagulation Ocular albinism Ptosis Intellectual disability, mild Synophrys Abnormality of skin pigmentation Congenital sensorineural hearing impairment Unilateral ptosis Piebaldism Hypoganglionosis Dementia Cirrhosis Purpura Anxiety Elevated serum acid phosphatase Clinodactyly Depressivity Diarrhea Abnormality of the skeletal system Muscle weakness Sea-blue histiocytosis Absent axillary hair Petechiae Mediastinal lymphadenopathy Chronic myelogenous leukemia Mucopolysacchariduria Histiocytosis Pulmonary infiltrates Autoimmune thrombocytopenia Sensory impairment Febrile seizures Arrhythmia Hypoketotic hypoglycemia Anorexia Exotropia Abnormality of retinal pigmentation Decreased liver function Sensorimotor neuropathy Hypocalcemia Tachypnea Abnormal electroretinogram Loss of consciousness Chorioretinal atrophy Multiple lipomas Rhabdomyolysis Preeclampsia Recurrent hypoglycemia Cholestatic liver disease Hepatic steatosis Reye syndrome-like episodes Intellectual disability, severe Motor delay 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Acute hepatic steatosis Reduced consciousness/confusion Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Pigmentary retinopathy Retinal dystrophy Spastic gait Hyperpigmented nevi Narrow face Horseshoe kidney Paraparesis Abnormality of the genitourinary system Bowel incontinence Axonal degeneration Progressive spastic paraplegia Vitiligo Progeroid facial appearance Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmentation in sun-exposed areas Hepatic failure Elevated serum creatine phosphokinase Dilated cardiomyopathy Nyctalopia Abnormality of the liver Hypertrophic cardiomyopathy Elevated hepatic transaminase Hypoglycemia Visual loss Premature graying of body hair Abnormality of metabolism/homeostasis Congestive heart failure Myopathy Cardiomyopathy Macrocephaly Feeding difficulties Flat nasal alae



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