Peripheral neuropathy, and Ichthyosis

Diseases related with Peripheral neuropathy and Ichthyosis

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


Top matches:

Low match IRIDA SYNDROME


IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

Related symptoms:

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

Low match MEDNIK SYNDROME


MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

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Other less relevant matches:

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match BATHING SUIT ICHTHYOSIS


Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

Low match ACRAL SELF-HEALING COLLODION BABY


Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ACRAL SELF-HEALING COLLODION BABY

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Ichthyosis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Hyperkeratosis Anemia Seizures

Rare Symptoms - Less than 30% cases


High forehead Erythema Cirrhosis Short stature Splenomegaly Ptosis Cognitive impairment Hepatosplenomegaly Hypogonadism Ataxia Retinopathy Edema Diarrhea Hepatomegaly Cataract Fatigue Intrahepatic cholestasis Abnormal intestine morphology Malabsorption Hypocupremia Growth delay Generalized hypotonia Tachycardia Abnormality of the gastric mucosa Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Mastocytosis Allergy Dermatographic urticaria Cutaneous mastocytosis Anaphylactic shock Pruritus Chronic leukemia Telangiectasia macularis eruptiva perstans Microcephaly Strabismus Cryptorchidism Immunodeficiency Generalized osteosclerosis Flushing Recurrent fractures Bone pain Nausea Ascites Lymphadenopathy Sudden cardiac death Asthma Gastrointestinal hemorrhage Hypotension Abnormal blistering of the skin Muscle flaccidity Telangiectasia Bone marrow hypocellularity Acute leukemia Osteolysis Leukopenia Shock Sarcoma Urticaria Portal hypertension Nausea and vomiting Abnormal nasolacrimal system morphology Hypermelanotic macule Abnormality of blood and blood-forming tissues Loss of consciousness Abnormal hair quantity Micropenis Primary amenorrhea Abnormality of the dentition Hyporeflexia Delayed skeletal maturation Diabetes mellitus Camptodactyly of finger High anterior hairline Sensory neuropathy Round face Cerebral calcification Bilateral sensorineural hearing impairment Hypoplasia of dental enamel Congenital nephrotic syndrome Abnormality of dental enamel Abnormal toenail morphology Abnormality of the fingernails Acanthosis nigricans Large hands Macular dystrophy External genital hypoplasia Amelogenesis imperfecta Abnormal eyelid morphology Taurodontia Abnormal eyebrow morphology Absent testis Steroid-resistant nephrotic syndrome Hypothyroidism Leukemia Hypoglycemia Proteinuria Abnormality of the nervous system Mental deterioration Leukonychia Developmental regression Stage 5 chronic kidney disease Focal-onset seizure Nephrotic syndrome Epidermal acanthosis Hypertriglyceridemia Thin eyebrow Diffuse mesangial sclerosis Lymphopenia Pili torti Hypocalcemia Recurrent bacterial infections Hypoalbuminemia Glomerulosclerosis Focal impaired awareness seizure Focal segmental glomerulosclerosis Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Papule Short 5th metacarpal Skin rash Sparse eyebrow Coarse facial features Low-set, posteriorly rotated ears Sparse hair Broad forehead Pulmonic stenosis Peripheral axonal neuropathy Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Absent eyebrow Posteriorly rotated ears Curly hair Arthropathy Neuropathic arthropathy Muscle weakness Dysarthria Skeletal muscle atrophy Myopathy Behavioral abnormality Dystonia Depressivity Areflexia Proptosis Atrial septal defect Pneumonia Upslanted palpebral fissure Pallor Microcytic anemia Iron deficiency anemia Reticulocytosis Anisocytosis Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Decreased serum iron Elevated hepcidin level Cholestasis Short neck Hepatic fibrosis Erythroderma Congenital sensorineural hearing impairment Decreased serum ceruloplasmin Hypertelorism Low-set ears High palate Myopia Macrocephaly Downslanted palpebral fissures Anteverted nares Elevated serum creatine phosphokinase Myoclonus Myalgia Calcific stippling Autistic behavior Nyctalopia Congenital cataract Polyneuropathy Progressive visual loss Rhizomelia Sensorimotor neuropathy Anosmia Hammertoe Distal lower limb amyotrophy Polyneuritis Autism Elevated levels of phytanic acid Neoplasm Pain Hypertension Headache Thrombocytopenia Osteoporosis Abdominal pain Weight loss Gastroesophageal reflux Arthralgia Skeletal dysplasia Rod-cone dystrophy Anxiety Abnormality of the musculature Muscular dystrophy Dilated cardiomyopathy Dyskinesia Chorea Generalized-onset seizure Cardiomegaly Atrial fibrillation Aspiration EMG abnormality Obsessive-compulsive behavior Rhabdomyolysis Pes cavus Aspiration pneumonia Motor axonal neuropathy Acanthocytosis Tics Personality disorder Abetalipoproteinemia Phonic tics Flexion contracture Blindness Congestive heart failure Visual loss Abnormality of nail color



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